Skip to main content

Table 1 CIMDRN-targeted IMD (n = 31); priority diseases (bold) have been selected by investigators for in-depth longitudinal data collection

From: Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network

CIMDRN targeted-IMD
Amino acid disorders:
• Phenylalanine hydroxylase (PAH) deficiency
Homocystinuria
Maple syrup urine disease
Tyrosinemia
Urea cycle disorders:
Arginase deficiency
Argininosuccinic acidemia
Carbamyl phosphate synthetase deficiency
Citrin deficiency
Citrullinemia
Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome
N-acetylglutamate synthetase deficiency
Ornithine transcarbamylase deficiency
Organic acid disorders:
β-ketothiolase deficiency
Glutaric acidemia type I
HMG-CoA lyase deficiency
Isovaleric academia
3-methylcrotonyol-CoA carboxylase deficiency (3MCC)
Methylmalonic acidemias (MMA)
Propionic acidemia
Fatty acid oxidation disorders:
• Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency
• Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency
Carnitine uptake defect (CUD)
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Trifunctional protein deficiency
Other disorders:
• Guanidinoacetate methyltransferase (GAMT) deficiency*
• Mucopolysaccharidosis type I (MPSI)*
Farber disease*
Galactosemia
Glycogen storage disease type I
Multiple carboxylase deficiency/biotinidase deficiency
Pyridoxine-dependent epilepsy
  1. *individuals of any age enrolled if receiving care at a participating Centre